Incidental Mutation 'R7573:Rab3gap2'
ID 586126
Institutional Source Beutler Lab
Gene Symbol Rab3gap2
Ensembl Gene ENSMUSG00000039318
Gene Name RAB3 GTPase activating protein subunit 2
Synonyms 1110059F07Rik
MMRRC Submission 045659-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7573 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 184936314-185018956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 185014579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 1243 (W1243R)
Ref Sequence ENSEMBL: ENSMUSP00000066325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027921] [ENSMUST00000069652] [ENSMUST00000194740]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027921
SMART Domains Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
Pfam:tRNA-synt_1 87 712 3.6e-172 PFAM
Pfam:tRNA-synt_1g 112 268 7e-15 PFAM
Pfam:tRNA-synt_1_2 334 462 3.8e-7 PFAM
Pfam:Anticodon_1 756 920 1.3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069652
AA Change: W1243R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066325
Gene: ENSMUSG00000039318
AA Change: W1243R

DomainStartEndE-ValueType
low complexity region 52 62 N/A INTRINSIC
Pfam:RAB3GAP2_N 73 497 1.3e-167 PFAM
low complexity region 667 686 N/A INTRINSIC
Pfam:RAB3GAP2_C 767 1366 3.2e-245 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194740
AA Change: W1223R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141608
Gene: ENSMUSG00000039318
AA Change: W1223R

DomainStartEndE-ValueType
low complexity region 52 62 N/A INTRINSIC
Pfam:RAB3GAP2_N 73 497 1.3e-157 PFAM
low complexity region 667 686 N/A INTRINSIC
Pfam:RAB3GAP2_C 766 1346 2.5e-233 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,366,917 (GRCm39) I49F Het
1810055G02Rik T A 19: 3,765,728 (GRCm39) M1K probably null Het
Abcb1b G A 5: 8,878,866 (GRCm39) C750Y possibly damaging Het
Abi2 T A 1: 60,509,867 (GRCm39) V412D probably benign Het
Alk C T 17: 72,207,787 (GRCm39) V983M probably damaging Het
Alppl2 A T 1: 87,015,953 (GRCm39) W266R possibly damaging Het
Arhgef18 A G 8: 3,434,918 (GRCm39) R188G probably damaging Het
Atp2c2 A T 8: 120,478,008 (GRCm39) D695V probably damaging Het
B3gnt4 A T 5: 123,648,718 (GRCm39) I28L probably benign Het
C2cd3 A G 7: 100,068,914 (GRCm39) D536G Het
Cacna1c A G 6: 118,581,406 (GRCm39) S1733P Het
Cacna1e T C 1: 154,601,911 (GRCm39) probably benign Het
Capns1 A G 7: 29,891,960 (GRCm39) F101L probably damaging Het
Ccdc180 A G 4: 45,922,015 (GRCm39) T1030A probably benign Het
Cdh23 T C 10: 60,159,329 (GRCm39) T2151A probably benign Het
Cenpe T A 3: 134,953,220 (GRCm39) L1558Q probably damaging Het
Cfap157 T C 2: 32,667,520 (GRCm39) H521R probably benign Het
Crygs T A 16: 22,624,069 (GRCm39) *179C probably null Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Cul9 T C 17: 46,830,836 (GRCm39) T1686A probably benign Het
Cutc T C 19: 43,748,382 (GRCm39) V95A probably benign Het
Cxcl3 A G 5: 90,934,105 (GRCm39) T26A probably benign Het
Dnah9 A G 11: 66,016,041 (GRCm39) V400A probably benign Het
Dysf A T 6: 84,107,104 (GRCm39) N1139I possibly damaging Het
Fam136a G A 6: 86,343,667 (GRCm39) E55K probably benign Het
Fam151a A G 4: 106,600,502 (GRCm39) D179G probably damaging Het
Fam178b T C 1: 36,671,533 (GRCm39) D196G probably damaging Het
Fut9 A T 4: 25,620,691 (GRCm39) M41K probably benign Het
Gm9195 T C 14: 72,694,122 (GRCm39) Q1531R probably null Het
Gpr6 A T 10: 40,946,868 (GRCm39) V238D probably damaging Het
Hoxa2 A T 6: 52,140,283 (GRCm39) S234R probably benign Het
Itga4 A G 2: 79,103,337 (GRCm39) T143A probably benign Het
Kcnq2 A G 2: 180,723,382 (GRCm39) S693P probably benign Het
Kif13b A G 14: 65,041,107 (GRCm39) I1732V probably benign Het
Klhl14 A G 18: 21,785,211 (GRCm39) V72A probably benign Het
Krt1c T A 15: 101,722,954 (GRCm39) D348V probably benign Het
Map4k2 A T 19: 6,394,094 (GRCm39) E300D probably benign Het
Mars1 A G 10: 127,138,679 (GRCm39) probably null Het
Mpo A G 11: 87,688,403 (GRCm39) D354G probably benign Het
Mrpl15 T C 1: 4,847,778 (GRCm39) T174A probably damaging Het
Myom2 G A 8: 15,172,450 (GRCm39) C1183Y probably damaging Het
Nfkb2 C A 19: 46,297,082 (GRCm39) Q336K possibly damaging Het
Nlrp2 A G 7: 5,320,468 (GRCm39) probably null Het
Nlrp9b T C 7: 19,753,125 (GRCm39) L10P probably damaging Het
Nrip2 A G 6: 128,377,232 (GRCm39) S53G probably benign Het
Or13a22 G A 7: 140,072,912 (GRCm39) M120I probably damaging Het
Or4k36 T C 2: 111,146,277 (GRCm39) I151T probably benign Het
Or52a5b A G 7: 103,416,677 (GRCm39) M309T probably benign Het
Or52z13 C T 7: 103,246,735 (GRCm39) L71F probably benign Het
Or8b54 A T 9: 38,686,791 (GRCm39) K80I probably damaging Het
Or8g18 C T 9: 39,148,977 (GRCm39) V248I probably benign Het
Pak5 A G 2: 135,958,225 (GRCm39) S288P probably damaging Het
Pjvk T C 2: 76,487,809 (GRCm39) F234L probably benign Het
Plekhm2 T C 4: 141,358,658 (GRCm39) N616D probably benign Het
Pnkp C T 7: 44,506,852 (GRCm39) R9C probably damaging Het
Prom1 A G 5: 44,213,272 (GRCm39) C154R probably damaging Het
Rad17 C T 13: 100,765,974 (GRCm39) A385T probably damaging Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rnf213 T C 11: 119,349,310 (GRCm39) C3804R Het
Ros1 T A 10: 52,046,072 (GRCm39) T153S probably benign Het
Sema4g T C 19: 44,986,010 (GRCm39) S284P probably damaging Het
Septin9 C T 11: 117,090,571 (GRCm39) probably benign Het
Slc2a9 T C 5: 38,574,569 (GRCm39) S236G probably damaging Het
Slc9c1 T C 16: 45,398,256 (GRCm39) F674L probably benign Het
Slfn5 A T 11: 82,849,585 (GRCm39) K361N probably damaging Het
Smad6 A G 9: 63,929,052 (GRCm39) L88S unknown Het
Smarca4 T A 9: 21,550,371 (GRCm39) probably null Het
Smg7 A T 1: 152,735,240 (GRCm39) N198K probably damaging Het
Sorcs1 G A 19: 50,141,234 (GRCm39) Q1166* probably null Het
Stap1 A G 5: 86,238,854 (GRCm39) N212S possibly damaging Het
Tbx2 C G 11: 85,724,138 (GRCm39) A69G possibly damaging Het
Tmc1 C A 19: 20,884,372 (GRCm39) D23Y probably damaging Het
Tmf1 A T 6: 97,135,455 (GRCm39) D940E probably benign Het
Trim27 T A 13: 21,364,770 (GRCm39) C36S probably damaging Het
Unc80 G A 1: 66,560,696 (GRCm39) G808D probably damaging Het
Usp17ld G T 7: 102,900,094 (GRCm39) Y279* probably null Het
Usp40 G A 1: 87,913,794 (GRCm39) A433V probably benign Het
Vmn1r49 G A 6: 90,049,843 (GRCm39) A53V probably benign Het
Vmn1r84 T C 7: 12,095,787 (GRCm39) N302S probably benign Het
Wfdc2 A T 2: 164,407,741 (GRCm39) I137L probably benign Het
Other mutations in Rab3gap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Rab3gap2 APN 1 184,971,067 (GRCm39) missense probably damaging 1.00
IGL01620:Rab3gap2 APN 1 184,936,523 (GRCm39) missense probably benign
IGL01977:Rab3gap2 APN 1 184,999,220 (GRCm39) nonsense probably null
IGL02183:Rab3gap2 APN 1 185,003,665 (GRCm39) nonsense probably null
IGL02229:Rab3gap2 APN 1 184,991,580 (GRCm39) missense possibly damaging 0.71
IGL02231:Rab3gap2 APN 1 184,999,095 (GRCm39) splice site probably benign
IGL02506:Rab3gap2 APN 1 184,984,221 (GRCm39) splice site probably benign
IGL02618:Rab3gap2 APN 1 184,983,938 (GRCm39) missense possibly damaging 0.79
IGL02643:Rab3gap2 APN 1 184,999,197 (GRCm39) missense possibly damaging 0.69
IGL03239:Rab3gap2 APN 1 184,982,091 (GRCm39) missense probably damaging 1.00
PIT4498001:Rab3gap2 UTSW 1 185,013,882 (GRCm39) missense probably damaging 1.00
R0173:Rab3gap2 UTSW 1 184,982,104 (GRCm39) missense possibly damaging 0.51
R0372:Rab3gap2 UTSW 1 184,994,891 (GRCm39) missense possibly damaging 0.93
R0492:Rab3gap2 UTSW 1 184,984,589 (GRCm39) splice site probably benign
R0510:Rab3gap2 UTSW 1 184,992,705 (GRCm39) splice site probably benign
R0708:Rab3gap2 UTSW 1 184,982,123 (GRCm39) missense probably damaging 0.99
R0711:Rab3gap2 UTSW 1 184,982,123 (GRCm39) missense probably damaging 0.99
R1135:Rab3gap2 UTSW 1 185,008,140 (GRCm39) missense possibly damaging 0.95
R1428:Rab3gap2 UTSW 1 184,980,101 (GRCm39) missense probably damaging 1.00
R1599:Rab3gap2 UTSW 1 184,983,223 (GRCm39) missense probably benign 0.07
R1758:Rab3gap2 UTSW 1 185,016,081 (GRCm39) missense probably benign 0.13
R1903:Rab3gap2 UTSW 1 184,954,099 (GRCm39) missense probably benign
R1929:Rab3gap2 UTSW 1 185,015,739 (GRCm39) critical splice donor site probably null
R1994:Rab3gap2 UTSW 1 184,968,221 (GRCm39) missense probably damaging 1.00
R2010:Rab3gap2 UTSW 1 185,010,478 (GRCm39) missense possibly damaging 0.57
R2102:Rab3gap2 UTSW 1 185,014,586 (GRCm39) missense probably benign 0.00
R2120:Rab3gap2 UTSW 1 184,993,564 (GRCm39) missense possibly damaging 0.95
R2219:Rab3gap2 UTSW 1 185,008,113 (GRCm39) missense probably damaging 0.99
R2259:Rab3gap2 UTSW 1 184,954,056 (GRCm39) missense probably damaging 1.00
R2270:Rab3gap2 UTSW 1 185,015,739 (GRCm39) critical splice donor site probably null
R2272:Rab3gap2 UTSW 1 185,015,739 (GRCm39) critical splice donor site probably null
R3083:Rab3gap2 UTSW 1 184,936,466 (GRCm39) missense probably benign 0.00
R3776:Rab3gap2 UTSW 1 185,009,402 (GRCm39) missense probably damaging 1.00
R4050:Rab3gap2 UTSW 1 185,004,840 (GRCm39) critical splice donor site probably null
R4130:Rab3gap2 UTSW 1 184,936,494 (GRCm39) missense possibly damaging 0.51
R4176:Rab3gap2 UTSW 1 184,978,863 (GRCm39) missense probably damaging 0.99
R4296:Rab3gap2 UTSW 1 184,988,034 (GRCm39) critical splice donor site probably null
R4416:Rab3gap2 UTSW 1 185,014,544 (GRCm39) missense probably benign 0.00
R4426:Rab3gap2 UTSW 1 184,967,539 (GRCm39) missense probably damaging 1.00
R4516:Rab3gap2 UTSW 1 184,999,265 (GRCm39) missense probably benign
R4518:Rab3gap2 UTSW 1 184,999,265 (GRCm39) missense probably benign
R4891:Rab3gap2 UTSW 1 184,991,563 (GRCm39) missense probably benign 0.00
R4913:Rab3gap2 UTSW 1 184,995,026 (GRCm39) missense probably benign 0.12
R4955:Rab3gap2 UTSW 1 184,999,352 (GRCm39) intron probably benign
R5411:Rab3gap2 UTSW 1 185,009,342 (GRCm39) critical splice acceptor site probably null
R5516:Rab3gap2 UTSW 1 184,967,684 (GRCm39) missense probably benign 0.02
R5670:Rab3gap2 UTSW 1 185,009,402 (GRCm39) missense probably damaging 1.00
R5670:Rab3gap2 UTSW 1 184,954,096 (GRCm39) missense probably benign
R6380:Rab3gap2 UTSW 1 184,968,181 (GRCm39) missense probably damaging 1.00
R6533:Rab3gap2 UTSW 1 184,965,151 (GRCm39) splice site probably null
R6655:Rab3gap2 UTSW 1 184,982,208 (GRCm39) missense probably damaging 1.00
R6676:Rab3gap2 UTSW 1 185,015,607 (GRCm39) missense probably damaging 1.00
R6726:Rab3gap2 UTSW 1 184,980,062 (GRCm39) missense probably damaging 0.99
R6969:Rab3gap2 UTSW 1 184,968,209 (GRCm39) missense probably damaging 1.00
R7151:Rab3gap2 UTSW 1 184,980,250 (GRCm39) missense probably benign 0.00
R7168:Rab3gap2 UTSW 1 184,936,494 (GRCm39) missense possibly damaging 0.51
R7196:Rab3gap2 UTSW 1 185,013,864 (GRCm39) missense probably damaging 1.00
R7201:Rab3gap2 UTSW 1 184,999,388 (GRCm39) missense probably damaging 1.00
R7371:Rab3gap2 UTSW 1 184,983,265 (GRCm39) missense probably damaging 1.00
R7779:Rab3gap2 UTSW 1 184,991,641 (GRCm39) missense probably damaging 0.98
R7913:Rab3gap2 UTSW 1 184,995,013 (GRCm39) missense possibly damaging 0.88
R7922:Rab3gap2 UTSW 1 184,982,117 (GRCm39) missense probably benign 0.00
R8115:Rab3gap2 UTSW 1 184,999,447 (GRCm39) missense possibly damaging 0.90
R8203:Rab3gap2 UTSW 1 184,999,376 (GRCm39) missense probably damaging 1.00
R8242:Rab3gap2 UTSW 1 184,954,050 (GRCm39) missense probably benign
R8322:Rab3gap2 UTSW 1 184,978,877 (GRCm39) missense probably benign 0.42
R8360:Rab3gap2 UTSW 1 184,999,270 (GRCm39) intron probably benign
R8515:Rab3gap2 UTSW 1 184,995,017 (GRCm39) missense probably benign 0.15
R8678:Rab3gap2 UTSW 1 184,983,281 (GRCm39) missense probably damaging 1.00
R8833:Rab3gap2 UTSW 1 184,990,722 (GRCm39) missense probably damaging 1.00
R9175:Rab3gap2 UTSW 1 185,009,360 (GRCm39) missense probably damaging 1.00
R9267:Rab3gap2 UTSW 1 184,983,331 (GRCm39) missense probably damaging 0.99
R9312:Rab3gap2 UTSW 1 185,015,684 (GRCm39) missense probably benign 0.00
R9443:Rab3gap2 UTSW 1 184,967,523 (GRCm39) missense probably damaging 1.00
R9564:Rab3gap2 UTSW 1 185,014,691 (GRCm39) missense probably damaging 1.00
R9642:Rab3gap2 UTSW 1 184,967,692 (GRCm39) missense probably benign 0.28
Z1088:Rab3gap2 UTSW 1 185,013,874 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTTGGGATTGAACACAGGCC -3'
(R):5'- GTTTTATAACTTCCACCCCATGAG -3'

Sequencing Primer
(F):5'- GGCCACCAGCTTACAGAG -3'
(R):5'- TGAGCATCTCGGGTCATCC -3'
Posted On 2019-10-24